Focal refractory epilepsy associated to 15q13.3 microduplication.

Abstract

A young man in his early 20s, with a maternal history of epilepsy and psychiatric disorders, presents with drug-resistant epilepsy (DRE). His seizures began at age 5 following mild head trauma and have since progressed to frequent generalised and focal seizures. Despite treatment with carbamazepine, levetiracetam and gabapentin, seizure control remains elusive.Genetic testing reveals a 440.5 Kb microduplication at 15q13.3 involving the CHRNA7 gene. Brain MRI shows non-specific gliosis in the left frontal subcortical region. This finding aligns with previous associations of 15q13.3 copy number variations with epilepsy, intellectual disability and attention-deficit/hyperactivity disorder, though their role in DRE remains unclear.This case highlights the complexity of 15q13.3 microduplications, their phenotypic variability and incomplete penetrance, making management challenging. Treatment strategies remain largely undefined, emphasising the need for comprehensive genetic evaluation and personalised approaches. Further research is essential to refine therapeutic options for patients with this genetic alteration.